Novel Immunodeficiency Associated with Severe Cytomegalovirus Disease

A 51-year old man with a homozygous frameshift mutation in the nitric oxide synthase 2 gene developed progressive and fatal cytomegalovirus disease.

Cytomegalovirus (CMV) poses a significant risk to recipients of solid-organ or stem-cell transplants and can cause severe disease in patients with advanced and untreated AIDS. Occasionally, infectious disease physicians also encounter adults with severe CMV disease but no risk factors or T-cell dysfunction. These researchers report on the clinical and genetic characteristics of a 51-year-old Iranian man with uncontrollable CMV infection but no elevated susceptibility to any other pathogen.

The patient acquired primary CMV pneumonia that initially responded to antiviral treatment. Over the subsequent 29 months, he developed progressive CMV disease, including retinitis, stomatitis, recurrent pneumonitis, encephalitis, and hemophagocytic lympho…

Reviewing Author

Daniel Kaul, MD

Disclosures

Grant/Research SupportNobelpharma; Pfizer

Leadership Positions in Professional SocietiesAmerican Society of Transplantation (Program Committee)

Daniel Kaul, MD

Disclosures

Grant/Research SupportNobelpharma; Pfizer

Leadership Positions in Professional SocietiesAmerican Society of Transplantation (Program Committee)

Novel Immunodeficiency Associated with Severe Cytomegalovirus Disease

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Reviewing Author